ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2469C>T (p.Leu823=)

dbSNP: rs12460528
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248870 SCV000316033 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321519 SCV000414534 benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000248870 SCV000539906 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286445 SCV001473016 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001286445 SCV001725870 benign Familial cold autoinflammatory syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001286445 SCV002026800 benign Familial cold autoinflammatory syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000248870 SCV004101855 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 81% of patients studied by a panel of primary immunodeficiencies. Number of patients: 78. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004717128 SCV005310528 benign not provided criteria provided, single submitter not provided

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